S45C (p.Ser45Cys) variant of KCNJ2 (P63252)
S45C (p.Ser45Cys) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- gnomAD 17-70175172-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.30
- MetaLR 0.10
- MetaSVM -1.05
- CADD 24.00
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available